ClinVar Miner

Variants in gene ATRX

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
59 34 339 255 92 24 704

Condition and significance breakdown #

Total conditions: 26
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Alpha thalassemia-X-linked intellectual disability syndrome 33 10 219 195 83 1 525
not provided 17 12 84 37 11 0 156
not specified 0 0 23 27 16 21 73
History of neurodevelopmental disorder 0 1 9 19 14 0 43
Inborn genetic diseases 3 4 13 0 0 0 20
X-linked intellectual disability-hypotonic face syndrome 2 5 12 0 0 0 19
Mental retardation-hypotonic facies syndrome, X-linked 8 0 0 0 0 0 8
Acquired hemoglobin H disease; Alpha thalassemia-X-linked intellectual disability syndrome; X-linked intellectual disability-hypotonic face syndrome 1 0 6 0 0 0 7
Intellectual disability 1 1 3 1 0 0 5
Alpha thalassemia-X-linked intellectual disability syndrome; X-linked intellectual disability-hypotonic face syndrome 2 1 1 0 0 0 4
Acquired hemoglobin H disease 2 0 1 0 0 0 3
Global developmental delay; Microcephaly 0 2 0 0 0 0 2
ATRX-Related Disorder 0 0 0 0 0 1 1
Alpha-thalassemia/mental retardation syndrome 1 0 0 0 0 0 1
Astrocytoma, anaplastic 1 0 0 0 0 0 1
Atypical teratoid/rhabdoid tumor 1 0 0 0 0 0 1
Cryptorchidism; Osteosarcoma; Ambiguous genitalia; Microcephaly; Intellectual disability, severe 1 0 0 0 0 0 1
Glioblastoma multiforme, somatic 0 0 1 0 0 0 1
Global developmental delay 1 0 0 0 0 0 1
Metastatic pancreatic neuroendocrine tumours 0 1 0 0 0 0 1
Microcephaly 0 0 1 0 0 0 1
Oligodendroglioma 0 0 1 0 0 0 1
Renier-Gabreels-Jasper syndrome 0 0 0 0 0 1 1
See cases 1 0 0 0 0 0 1
Short stature; Absent speech; Microcephaly; Low-set, posteriorly rotated ears; Generalized hypotonia; Drooling; Psychomotor deterioration 0 1 0 0 0 0 1
none provided 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 57
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 11 1 186 205 87 0 490
GeneDx 8 8 32 12 1 0 61
Ambry Genetics 3 4 21 19 14 0 61
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 8 1 34 4 14 0 61
Natera, Inc. 1 0 28 12 9 0 50
Genetic Services Laboratory, University of Chicago 1 0 18 16 7 0 42
OMIM 24 0 0 0 0 0 24
ITMI 0 0 0 0 0 21 21
CeGaT Praxis fuer Humangenetik Tuebingen 4 0 11 1 0 0 16
Athena Diagnostics Inc 0 0 5 3 7 0 15
Baylor Genetics 3 2 9 0 0 0 14
Institute of Human Genetics, University of Leipzig Medical Center 3 1 3 2 1 0 10
Integrated Genetics/Laboratory Corporation of America 1 1 3 0 0 0 5
Fulgent Genetics,Fulgent Genetics 1 0 4 0 0 0 5
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 3 0 2 0 5
Mendelics 0 3 1 0 0 0 4
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 2 1 1 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 2 0 0 0 4
Center for Human Genetics, Inc,Center for Human Genetics, Inc 2 0 1 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 2 0 1 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 2 0 0 0 3
Genome Sciences Centre,British Columbia Cancer Agency 0 1 2 0 0 0 3
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 1 1 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 0 0 0 0 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 1 1 0 2
PreventionGenetics, PreventionGenetics 0 0 0 0 2 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
UCLA Clinical Genomics Center, UCLA 1 1 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 2 0 0 0 0 2
Diagnostic Laboratory, Strasbourg University Hospital 1 0 1 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 1 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Broad Institute Rare Disease Group, Broad Institute 0 1 1 0 0 0 2
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 2 0 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Clinical Genetics laboratory, University of Goettingen 0 0 1 0 0 0 1
GeneReviews 1 0 0 0 0 0 1
Richard Lifton Laboratory, Yale University School of Medicine 0 0 1 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 0 0 1 0 0 0 1
Service de Génétique Moléculaire,Hôpital Robert Debré 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 1 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 0 0 0 0 1
Human Genetics Unit,University of Colombo 0 1 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 1 0 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 1 0 0 0 0 0 1
Tampere Brain Tumor Research Consortium,University of Tampere 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1
Raymond Lab,University of Cambridge 0 1 0 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 1
Nilou-Genome Lab 0 0 1 0 0 0 1
Shieh Lab,University of California, San Francisco 0 0 1 0 0 0 1

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